Term Name: | hypomyelinating leukodystrophy 9 |
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Synonyms: | HLD9, RARS-related autosomal recessive hypomyelinating leukodystrophy |
Definition: | A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. |
Ontology: | Human Disease [DOID:0060791] ( DOID:0060791 ) |